| Autor: |
Durska, Anna, Szpecht, Dawid, Gotz-Więckowska, Anna, Strauss, Ewa |
| Zdroj: |
Journal of Applied Genetics; 20240101, Issue: Preprints p1-13, 13p |
| Abstrakt: |
Retinopathy of prematurity (ROP) is a major cause of childhood blindness worldwide, linked to gene variants in the renin–angiotensin–aldosterone system, including angiotensin-converting enzyme (ACE) and angiotensin II receptor type 1 (AGTR1). This study aims to evaluate the association between ACEinsertion/deletion (I/D) and AGTR1rs5186A > C variants with the occurrence and progression of ROP in a Polish cohort. A total of 377 premature infants were enrolled in the study. The ACEvariant was evaluated using PCR, and AGTR1was assessed using TaqMan probes. Clinical characteristics, including risk factors and comorbidities, were documented. A meta-analysis of the effects of the studied variants on ROP was also conducted. The AGTR1rs5186C allele was significantly associated with both the progression of ROP and treatment outcomes. Homozygotes exhibited a 2.47-fold increased risk of developing proliferative ROP and a 4.82-fold increased risk of treatment failure. The impact of this allele increased at low birth weight. A meta-analysis, including 191 cases and 1661 controls, indicated an overall risk of 1.7 (95%CI 1.02–2.84) for the recessive effect of the rs5186C allele. The ACEvariant did not show a significant association with ROP in our population; however, a meta-analysis of 996 cases and 2787 controls suggested a recessive effect of the insertion allele (an odds ratio of 1.21 (95%CI 1.00–1.60)). These results indicate that gain-of-function AGTR1variants may play a crucial role in the development of ROP, potentially by promoting angiogenesis and pro-inflammatory effects. Screening for these variants could facilitate the development of personalized risk assessment and treatment strategies for ROP. |
| Databáze: |
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